Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

(2014) F. Tagliavini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

(2014) E. Sorato et al.   FREE RADICAL BIOLOGY AND MEDICINE

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

(2014) Sara De Palma et al.   JOURNAL OF PROTEOME RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

(2013) Jerry H. Kim et al.   ANESTHESIOLOGY

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

(2013) Russell J. Butterfield et al.   HUMAN MUTATION

Skeletal muscle excitation–contraction coupling: Who are the dancing partners?

(2013) Robyn T. Rebbeck et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

(2013) D. X. Bharucha-Goebel et al.   NEUROLOGY

Clinical Genomic Database

(2013) B. D. Solomon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

(2012) NA Hanchard et al.   CLINICAL GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Fluorescence Resonance Energy Transfer (FRET) Indicates That Association with the Type I Ryanodine Receptor (RyR1) Causes Reorientation of Multiple Cytoplasmic Domains of the Dihydropyridine Receptor (DHPR) α1SSubunit

(2012) Alexander Polster et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies

(2011) James A. Burge et al.   Current Neurology and Neuroscience Reports

Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

(2011) Charlotte A Brown et al.   JOURNAL OF HUMAN GENETICS

Differential and restricted expression of novel collagen VI chains in mouse

(2011) Sudheer Kumar Gara et al.   MATRIX BIOLOGY

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

(2011) Patrizia Sabatelli et al.   MATRIX BIOLOGY

The collagen VI-related myopathies: muscle meets its matrix

(2011) Carsten G. Bönnemann   Nature Reviews Neurology

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

A novel role of RNA helicase A in regulation of translation of type I collagen mRNAs

(2011) Z. Manojlovic et al.   RNA

Early onset collagen VI myopathies: Genetic and clinical correlations

(2010) Laura Briñas et al.   ANNALS OF NEUROLOGY

Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum

(2010) David H. MacLennan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies

(2010) Patrizia Sabatelli et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

(2008) A.K. Lampe et al.   HUMAN MUTATION

Three Novel Collagen VI Chains, α4(VI), α5(VI), and α6(VI)

(2008) Jamie Fitzgerald et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Three Novel Collagen VI Chains with High Homology to the α3 Chain

(2008) Sudheer Kumar Gara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY